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  1. Long duration for diagnosis: Given the diseases’ rarity and a lack of awareness and experience in clinical genetics, many patients have to go through a prolonged period of clinical investigations and follow-ups by different specialists in different hospitals before a proper diagnosis is made. Due to insufficient facilities, some laboratory investigations for the diagnosis of rare diseases are not available in Hong Kong. Patients’ specimens need to be frozen and sent to overseas laboratories for examination, which is very costly and time-consuming. Frozen specimens also reduce the accuracy of the test. Unable to afford the high cost of investigations, many patients are made to suffer hopelessly from the delay of diagnosis, lack of proper treatment, and deteriorating health.
  2. Lack of clinical experience: In Hong Kong, “clinical genetics” is not yet included in the list of specialists by the Medical Council of Hong Kong. Therefore, at present, no doctor can claim to be a specialist doctor in clinical genetics. Limited public resources are apportioned for research and development on rare diseases, leading to inadequate medical experience, and lack of timely, accessible and proper medical support. About 80% of rare diseases are genetic in origin, but there are grossly insufficient specialists in this field.
  3. Lack of support to rare diseases patients: Without an official definition in Hong Kong, the needs of rare diseases patients are often neglected. Many of them cannot benefit from the current safety net namely the Samaritan Fund, or denied access to publicly-funded medication. There are over 6,000 types of rare diseases identified in the world, it is estimated that there are thousands of rare disease cases in Hong Kong. The authority has yet to provide more support to rare diseases patients.. At present, only patients from 6 diseases[1] are receiving support from the Expert Panel on Rare Metabolic Diseases[2] , often through stringent criteria, yearly case by case review scheme. The majority of rare disease patients cannot benefit from the existing mechanism.
  4. High cost of medication: The rarity of rare diseases has led to small number of patients using orphan drugs. Although some pharmaceutical companies are willing to invest on R&D, orphan drugs are very costly and most families cannot afford to pay for these drugs. Most rare diseases cannot be cured and patients require continuous medication to manage and control the conditions, sometimes at higher than normal dosage. But these supporting drugs are not included in the HA Drugs Formulary.
  5. Economic burden and stress: Discrimination and misunderstanding on rare diseases can isolate the patients. Patients not only suffer from sickness and lack proper, timely diagnosis and support, but also have to deal with sense of guilt, despair and harsh feelings, and adverse impact on their employment and study, or even marital, social and psychological problems[3]. Some have to give up their jobs, which will worsen their financial situations, and psychological health. A HKU scholar once indicated that, the unemployment and poverty rates are much higher among families with rare disease patients than average level.